Spina Bifida Research Articles

Impact of CoVID-19 pandemic on multidisciplinary follow-up and clinical outcomes among pediatric spina bifida patients

The longitudinal, multidisciplinary care of children with spina bifida was disrupted during the CoVID-19 pandemic with unclear effect. To compare outpatient care utilization and outcomes among children with spina bifida before and during the CoVID-19 pandemic. A pre-post analysis (2018-2020 vs 2020-2022) comparing outpatient care utilization and clinical outcomes was performed using the onset of the CoVID-19 pandemic as a hinge point. Clinical visits and clinically significant events - ED visits, admissions, UTIs, shunt malfunctions - were tabulated from chart review, and patients not seen in the last two years were called for follow up. Differences between visits and outcomes for individuals during pre- and intra-pandemic periods were calculated, and relationships between demographic variables and care utilization as well as clinical visits and clinical outcomes were evaluated via linear regression. A total of 216 patients were included, 39 (18%) of whom were lost to follow up intra-pandemic. Mean in-person visits decreased from 3.7 (SD 2.8) pre-pandemic to 2.5 (SD 2.3, p<0.00) intra-pandemic. Only six patients (0.03%) had virtual visits pre-pandemic vs 95 (44%) intra-pandemic; virtual visits did not equalize mean total visits with those pre-pandemic (3.3 [2.9], p=0.02). Recent surgery was significantly associated with difference in clinic visits between periods (p<0.00). Admissions (44 vs 29%, p<0.00), ED visits (55 vs 43.5%, p<0.00), and shunt malfunctions (21 vs 12.6%, p=0.01) were significantly higher pre-pandemic; UTI incidence was similar (34 vs 31%, p=0.41). Clinic visits were significantly positively associated with ED visits (p=0.02), admissions (p<0.00), and shunt malfunctions (p=0.04). Nearly half (40.5%) of patients lost to follow up were contacted; 30% of patients reported difficulty accessing appointments and 17% accessing supplies during the pandemic. Despite an increase in telehealth visits during the pandemic, there was a decrease in mean total clinic visits compared to pre-pandemic. Adverse events did not increase during the pandemic period as expected; incidence of all evaluated outcomes was higher pre-pandemic. Additionally, outpatient care utilization during the pandemic was positively associated with ED presentation and shunt malfunction and did not appear to protect against other outcomes. Though clinical follow-up for pediatric spina bifida patients decreased during the COVID-19 pandemic, clinical outcomes did not acutely worsen. Clinic visits were supplemented but not entirely replaced by telemedicine in this period and were associated with poorer clinical outcomes, possibly reflecting an increase in patients' and families' threshold to engage in outpatient care during the pandemic.

Spina bifida transition care in India: strengths amidst challenges.

In India, adult neurosurgeons are required to care for children regularly because the concept of dedicated pediatric specialty care is not yet entirely established in the subcontinent. Likewise, pediatric neurosurgeons do not exclusively offer their services to the young, but they also provide care to adult patients with neurosurgical disorders. This creates a medical system where the transition between specialties is not often a formal and recognized aspect of neurosurgical care because most neurosurgeons provide care for patients of all ages. Additionally, there are very few teams geared toward caring for conditions in children that merit lifelong medical support, with spina bifida (SB) being one of them. Since there are no focused or structured pediatric programs on a large scale, developing a multidisciplinary clinic for adults becomes challenging. A pragmatic approach using technology-based education, supported by an organized system or a coordinator, may be a new strategy. A new system utilizing telemedicine and smartphones for established patients maybe an alternative option for SB children in India. During virtual video conferences, an established patient may benefit from multispecialty care and education toward a smooth transition that avoids significant issues with time, transportation, or financial constraints. Achieving a seamless transition among allied specialists from the pediatric to adult systems is a utopia. The current system in the subcontinent may be improved, with an opportunity to develop smooth transition care between coordinated specialists (who simultaneously treat children and adults). Learning from various global SB management styles, the Indian transition situation may offer another model in the near future.

Inside the Brain: Cerebrospinal Fluid Insights in Meningitis.

Background Our study focused on meningitis, an infection that can spread through the bloodstream as a primary or secondary infection from other body parts, such as sinuses, ears, and lungs. It can affect patients who have experienced trauma or surgery, as well as those with congenital defects like spina bifida. Specifically, we examined bacterial, viral, and tuberculous meningitis (TBM) cases. The primary method for confirming the diagnosis of these types of meningitis is to analyze the cerebrospinal fluid (CSF). Early diagnosis can utilize cytological and biochemical parameters. Our objective is to determine CSF's cytological and biochemical profile in patients with these specific types of meningitis. Methods A study was carried out at the central pathology lab from October 24, 2017, to April 24, 2018.CSF samples from suspected meningitis patients were examined for various parameters, including hematological, biochemical, microbiological, and cytomorphological aspects and specific tests for bacterial, fungal, and TBM. The study focused on patients aged 16 and above, excluding those under 16, non-compliant patients, and individuals with specific health conditions. Data were analyzed using IBM SPSS Statistics for Windows, Version 20 (Released 2011; IBM Corp., Armonk, New York, United States), and the results were presented through the use of mean, standard deviation, and percentages. Statistical tests were utilized to compare categorical variables and mean, with a significance level of p<0.05. Results We included a total of 156 cases, with the mean age of presentation being 56.628 years. The male-to-female ratio was 1.0526:1. Of the patients, 81 (52.1%) had been diagnosed with TBM, had elevated adenosine deaminase (ADA) levels of 48.8733±37.43740 IU/L, and CSF lymphocytosis (99%). Additionally, cases of bacterial meningitis showed markedly raised mean total leukocyte count (TLC) of 2085.50±445.47727 cells/mm3 and mean CSF protein levels of 349.45±113.73105 mg/dL. The study found a significant increase in protein levels and a decrease in glucose levels in the CSF of TBM and bacterial meningitis patients compared to those with other causes of meningitis (p<0.001). Guillain-Barre syndrome (GBS)and multiple sclerosis (MS) patients had TLC and ADA within normal limits.CSF ADA level greater than 6 IU/L showed a sensitivity of 97.53% and a specificity of 96.0%, making it the most specific test. A protein level in the CSF greater than 45 mg/dL demonstrated a sensitivity of 98.78% and a specificity of 24.32%, indicating it is sensitive but less specific in diagnosing TBM. Lymphocytic predominance, defined as TLCof more than 5 cells/mm3 with at least 50% of the cells being lymphocytes in the CSF of TBM patients, showed a sensitivity of 97.53% and a specificity of 6.67%. CSF glucose had a sensitivity of 38.27%, making it the least reliable indicator for diagnosing meningitis. Conclusion The CSF analysis is the primary diagnostic method for detecting meningitis. Its cost-effectiveness is a key factor, especially for patients from lower socioeconomic backgrounds in government medical colleges in India, where access to expensive diagnostic tests is limited. The efficiency of CSF analysis for early diagnosing different types of meningitis aids in management, helping to prevent complications and fatal outcomes.

Declining Rate of Neural Tube Defects and Outcomes of Defective Infants in Shaanxi Province from 2003 to 2022

Objective To evaluate the changes in the incidence of neural tube defects (NTDs) in Shaanxi province from 2003 to 2022,investigate the diagnosis time and outcomes of defective infants,and predict the incidence of NTDs in Shaanxi province from 2023 to 2025,thereby providing a basis for improving the birth defects surveillance system. Methods Data were collected from all the perinatal infants from 28 weeks of gestation to 7 days after birth in all the hospitals with obstetrical department in Shaanxi province during 2003-2022.The changes in the incidence of NTDs from 2003 to 2022 were analyzed based on the birth defects surveillance system. Results A total of 1 106 483 perinatal infants in Shaanxi province from 2003 to 2022 were surveyed,among which NTDs occurred in 848 perinatal infants,with an incidence of 7.66/10 000.The incidence was the highest (48.02/10 000) in 2005 and the lowest (0.57/10 000) in 2022.The NTDs in Shaanxi province were mainly spina bifida (55.90%),which was followed by anencephaly (25.71%) and encephalocele (18.40%).The incidences of the three declined with fluctuations (P<0.001).The results of the Joinpoint analysis showed that the incidence of NTDs decreased slowly with the annual percentage change of -4.04 from 2003 to 2014 and declined rapidly with the annual percentage change of -28.05 from 2014 to 2022.From 2003 to 2022,the average proportion of prenatal diagnosis of NTDs in Shaanxi province was 72.88%.Dead fetus (61.91%) was the main birth outcome,followed by live birth (26.77%),stillbirth (8.73%),and death within seven days after birth (2.59%).The incidence of NTDs in Shaanxi province from 2023 to 2025 were predicted by the GM (1,1) model as 0.49/10 000,0.41/10 000,and 0.35/10 000,respectively. Conclusion The incidence of NTDs in Shaanxi province declined significantly during 2003-2022,especially in a rapid manner after 2014.Dead fetus was the primary outcome of perinatal infants with NTDs,followed by live birth.

Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.

Two 1-day-old full-term female calves from different farms located in the Brazilian state of Rio Grande do Sul were unable to stand due to paresis of the pelvic limbs. Both calves had spina bifida on the spinal lumbar segment and were submitted to euthanasia due to poor prognosis. Postmortem examination revealed cerebellar herniation, caudal displacement of the brainstem, rostral deviation of the cranial nerves, caudal extension of occipital lobes, absence of dorsal lamina of lumbar vertebrae with exposed spinal cord, myelodysplasia, kyphosis, segmental spinal agenesis, renal fusion, muscular atrophy, and arthrogryposis. Histology highlighted myelodysplasia (syringomyelia and diplomyelia) and muscular atrophy. The reverse transcription-polymerase chain reactions for ruminant pestivirus were negative. Based on these lesions, the diagnosis of complex neural tube and skeletal malformations was made. A review of previous publications on calves diagnosed with these malformations, originally called Chiari or Arnold-Chiari malformations, revealed a wide range of nervous system and skeletal lesions. These variations amplified the uncertainty regarding whether all cases represent the same disorder and reinforced the importance of reconfiguring the terminology.

Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida.

To compare the occurrence of fetal bradycardia in open versus fetoscopic fetal spina bifida surgery. This is a single-institution retrospective cohort study of patients undergoing open (n=25) or fetoscopic (n=26) spina bifida repair between 2017 and 2022. From October 2017 to June 2020, spina bifida repairs were performed via an open classical hysterotomy, and from November 2020 to June 2022 fetoscopic repairs were performed following transition to this technique. Fetal heart rate (FHR) in beats per minute (bpm) was recorded via echocardiography every 15min during the procedure. Cohort characteristics, fetal bradycardia and maternal physiologic parameters were compared between the groups. Fetuses undergoing an open repair more frequently developed bradycardia defined as <110 bpm (32% vs. 3.8%, p=0.008), and a trend was observed for FHR decreases more than 25 bpm from baseline (20% vs. 3.8%, p=0.073). Profound bradycardia less than 80 bpm was rare, occurring in only three operations (two in open, one in fetoscopic repair) with two fetuses (one in each group) requiring emergency cesarean delivery. When compared to open fetal surgery, fetal bradycardia occurred less frequently in fetoscopic surgery despite a significantly greater anesthetic exposure and the use of the intraamniotic carbon dioxide insufflation.

Emergency Department Utilization Among People with Spina Bifida in California, 2005–2017

Emergency Department Utilization Among People with Spina Bifida in California, 2005–2017

Prenatal Neurosurgical Counseling for Myelomeningocele and Treatment-Determining Factors for Fetal Repair.

Spina bifida guidelines recommend neurosurgical involvement in prenatal counseling (nPNC) to inform decision-making between prenatal and postnatal MMC repair. This study examines whether families with myelomeningocele (MMC) presenting to one fetal center had timely nPNC encounters, and assesses modifiable and non-modifiable treatment-determining factors. History and timing of nPNC were quantified among infants undergoing postnatal and prenatal MMC repair, pregnant patients referred, and MMC studies in a fetal MRI database (2015-2023). Fetal repair exclusions, presentation timing, social determinants, and reported rationale for not selecting offered fetal therapy were assessed. Nearly all patients (34/35; 97%) engaged in nPNC, 82% prior to 24 weeks GA. Fourteen patients were excluded from fetal repair for lack of hindbrain herniation (43%), obstetric exclusions (21%), fetal exclusions (21%), suspected closed defect (7%), and delayed presentation (7%). These patients ultimately underwent postnatal repair (71%), and pregnancy termination (14%). The 20 fetal-repair-eligible patients selected fetal repair (50%), postnatal repair (45%), and pregnancy termination (5%). Reasons for declining fetal repair included risk (55%) and cost (22%). Among MMC families presenting to a regional fetal therapy center, nPNC was widely extended, in a mostly timely fashion. Very few were deterred from fetal repair by potentially modifiable barriers.

First-trimester ultrasound of the cerebral lateral ventricles in fetuses with open spina bifida: a retrospective cohort study

Beyond 18 weeks of gestation, an increased size of the fetal lateral ventricles is reported in most fetuses with open spina bifida. In the first trimester of pregnancy, the definition of ventriculomegaly is based on the ratio of the size of the choroid plexus to the size of the ventricular space or the entire fetal head. However, contrary to what is observed from the midtrimester of pregnancy, in most fetuses with open spina bifida at 11 to 13 weeks of gestation, the amount of fluid in the ventricular system seems to be reduced rather than increased. This study aimed to compare the biometry of the lateral ventricles at 11 0/7 to 13 6/7 weeks of gestation between normal fetuses and those with confirmed open spina bifida. This was a retrospective cohort study that included all cases of isolated open spina bifida detected at 11 0/7 to 13 6/7 weeks of gestation over a period of 5 years and a group of structurally normal fetuses attending at our center over a period of 1 year for the aneuploidy screening as controls. Transventricular axial views of the fetal brain obtained from cases and controls were extracted from the archive for post hoc measurement of cerebral ventricles. The choroid plexus-to-lateral ventricle length ratio, sum of the choroid plexus-to-lateral ventricle area ratio, choroid plexus area-to-fetal head area ratio, and mean choroid plexus length-to-occipitofrontal diameter ratio were calculated for both groups. The measurements obtained from the 2 groups were compared, and the association between each parameter and open spina bifida was investigated. A total of 10 fetuses with open spina bifida were compared with 358 controls. Compared with controls, fetuses with open spina bifida showed a significantly smaller size of the cerebral ventricle measurements, as expressed by larger values of choroid plexus-to-lateral ventricle area ratio (0.49 vs 0.72, respectively; P<.001), choroid plexus-to-lateral ventricle length ratio (0.70 vs 0.79, respectively; P<.001), choroid plexus area-to-fetal head area ratio (0.28 vs 0.33, respectively; P=.006), and choroid plexus length-to-occipitofrontal diameter ratio (0.52 vs 0.60, respectively; P<.001). The choroid plexus-to-lateral ventricle area ratio was found to be the most accurate predictor of open spina bifida, with an area under the curve of 0.88, a sensitivity of 90%, and a specificity of 82%. At 11 0/7 to 13 6/7 weeks of gestation, open spina bifida is consistently associated with a reduced amount of fluid in the lateral cerebral ventricles of the fetus, as expressed by a significantly increased choroid plexus-to-lateral ventricle length ratio, choroid plexus-to-lateral ventricle area ratio, choroid plexus area-to-fetal head area ratio, and choroid plexus length-to-occipitofrontal diameter ratio.

Chorioamniotic Membrane Separation after Fetal Spina Bifida Repair: Impact of CMS Size and Patient Management.

Chorioamniotic membrane separation (CMS) is a known complication after fetal spina bifida (fSB) repair. This study's goal was to analyze women's outcomes with open fSB repair and CMS (group A) compared to the ones without (group B) and to assess the influence of CMS size and patient management. A total of 194 women with open fSB repair at our center were included in this retrospective study. Outcomes of group A were compared to the ones of group B. Regression analysis was performed to assess risk factors for CMS. Two subgroup analyses assessed the impact of CMS size (small [A-small] vs. large [A-large]) as well as patient management (A1 = hospitalization vs. A2 = no hospitalization) on pregnancy outcomes. Of 194 women, 23 (11.9%) were in group A and 171 (88.1%) in group B. Preterm premature rupture of membranes (PPROMs) (69.6% vs. 24.1%, p = &lt;0.001), amniotic infection syndrome (AIS) (22.7% vs. 7.1%, p = 0.03), histologically confirmed chorioamnionitis (hCA) (40.0% vs. 14.7%, p = 0.03), length of hospital stay (LOS) after fSB repair (35 [19-65] vs. 17 [14-27] days), and overall LOS (43 [33-71] vs. 35 [27-46] days, p = 0.004) were significantly more often/longer in group A. Gestational age (GA) at delivery was significantly lower in group A compared to group B (35.3 [32.3-36.3] vs. 36.7 [34.9-37.0] weeks, p = 0.006). Regression analysis did not identify risk factors for CMS. Subgroup analysis comparing CMS sized in group A-small versus A-large showed higher AIS rate (42% vs. 0%, p = 0.04), lower LOS (22.0 [15.5-42.5] vs. 59.6 ± 24.1, p = 0.003). Comparison of group A1 versus A2 showed longer LOS (49.3 ± 22.8 vs. 15 [15-17.5] days, p &lt; 0.001), lower planned readmission rate (5.6% vs. 80%, p = 0.003). CMS significantly increased the risk of PPROM, AIS, hCA, caused longer LOS, and caused lower GA at delivery. Women with small CMS had higher AIS rates but shorter LOS compared to women with large CMS, while apart from LOS pregnancy outcomes did not differ regarding patient management (hospitalization after CMS yes vs. no).

A deficit to reach the isokinetic velocity in youth wheelchair users with spina bifida

Introduction The self-paced adopted by wheelchair users in their postural transfers and locomotion may require sufficient levels of speed-strength in the upper limbs. In clinical practice, we observed limited functional independence and social participation. Objectives This study aimed to investigate and compare the speed-strength relationship between wheelchair users with spina bifida (SB) and typically developing youth. In particular, to analyze if SB wheelchair users reached the preset velocities in the isokinetic evaluation of shoulder and elbow. Design Cross-sectional observational study. Setting Ribeirão Preto Medical School of the University of São Paulo. Participants and Procedures SB (SB; n = 11) and controls (CT; n = 22) performed the isokinetic assessment of shoulder abductors (SAB), adductors (SAD), flexors (SFL), extensors (SEX), and elbow flexors (EFL) and extensors (EEX) at velocities of 60 and 120degree.s−1. The analysis of covariance was used to identify the intergroup differences in muscle performance. Outcome Measures The values of peak torque (PT), power (Pow), time to peak torque (tPT) and the percentage to reach the isokinetic velocity. Results The percentage to reach 120degree.s−1 was moderate-to-low for both groups (26-75.9%). CT presented a significantly greater relative risk of reaching the preset velocities than SB. SB presented higher PT and Pow for SAB and SFL at 60degree.s−1, higher PT for SFL and EEX at 120degree.s−1, and lower tPT for SFL at 120degree.s−1 compared to CT. Conclusion SB had difficulty reaching 120degree.s−1, probably related to neuromuscular differences. However, arm movements in their daily tasks seem to maintain the ability to produce PT and Pow.

Neurosurgical management of Myelomeningocele in premature infants: a case series.

Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24h of birth. However, this is not always possible in severely premature infants. Given the rarity of this patient population, we aimed to share our institutional experience and outcomes of severely premature infants with MMC. We performed a retrospective, observational review of premature infants (≤ 32weeks gestational age) identified through our multidisciplinary spina bifida clinic (1995-2021) and surgical logs. Descriptive statistics were compiled about this sample including timing of MMC closure and incidence of adverse events such as sepsis, CSF diversion, meningitis, and death. Eight patients were identified (50% male) with MMC who were born ≤ 32weeks gestational age. Mean gestational age of the population was 27.3weeks (SD 3.5). Median time to MMC closure was 1.5days (IQR = 1-80.8). Five patients were taken for surgery within the recommended 48h of birth; 2 patients underwent significantly delayed closure (107 and 139days); and one patient's defect epithelized without surgical intervention. Six of eight patients required permanent cerebrospinal fluid (CSF) diversion (2 patients were treated with ventriculoperitoneal shunting (VPS), three were treated with endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC) and 1 patient treated with ETV; mean of 3years after birth, ranging from 1day to 16years). Two patients required more than one permanent CSF diversion procedure. Two patients developed sepsis (defined as meeting at least 2/4 SIRS criteria). In both cases of sepsis, patients developed signs and symptoms more than 72h after birth. Notably, both instances of sepsis occurred unrelated to operative intervention as they occurred before permanent MMC closure. Two patients had intraventricular hemorrhage (both grade III). No patients developed meningitis (defined as positive CSF cultures) prior to MMC closure. Median follow up duration was 9.7years. During this time epoch, 3 patients died: Two before 2years of age of causes unrelated to surgical intervention. One of the two patients with grade III IVH died within 24h of MMC closure. In our institutional experience with premature infants with MMC, some patients underwent delayed MMC closure. The overall rate of meningitis, sepsis, and mortality for preterm children with MMC was similar to MMC patients born at term.

Falls in people with mobility limitations: a cross-sectional analysis of a US registry of assistive device users

Purpose of the Article: To (1) summarise the personal and clinical characteristics of persons with disabilities (PwDs) in the US who were evaluated for mobility assistive equipment (MAE) in the functional mobility assessment and uniform dataset (FMA/UDS) and (2) stratify subpopulations of PwD who reported falling versus those who do not report a fall. Materials and Methods: This study was a retrospective, descriptive cohort analysis of adults with disabilities using the FMA/UDS. Data are collected during a user’s initial evaluation for a new mobility device. The sample is intentionally general to be inclusive of all mobility device users. The primary variable of interest was a patient-reported fall within the 3 months leading up to their evaluation for a new mobility device. Subpopulation characteristics were stratified by this binary fall variable. Results and Conclusions: This study provides descriptions of PwDs being evaluated for a new mobility device. There were 11,084 PwDs with 31 different primary diagnoses. During their new mobility device evaluation, 52.2% of PwDs reported at least one fall in the last 3 months. For those who reported a fall, 46.6% of PwDs were using a walking aid or no device at all before the new mobility device evaluation. Additionally, persons with progressively acquired disabilities (i.e., Parkinson’s disease, osteoarthritis and cardiopulmonary disease) reported higher rates of falls than those with congenital disabilities (i.e., cerebral palsy and spina bifida). These findings will influence future studies comparing different types of devices and their influence on falls and user satisfaction.

Two-stage corrective operation for the treatment of pes cavovarus in patients with spina bifida.

Pes cavovarus has an estimated incidence of 8%-17% in patients with spina bifida (SB). The majority of the current literature on surgical treatment of cavovarus feet in children and adolescents includes a variety of diagnoses. There are currently no case series describing a treatment algorithm for deformity correction in this specific patient population. The authors of this study present the results of a retrospective case series performed to assess the radiographic outcomes of two-stage corrective surgery in patients with SB. To assess the radiographic outcomes of a staged operation consisting of radical plantar release followed by osteotomy for pes cavovarus in patients with SB. Retrospective chart review was performed on patients with SB with a diagnosis of pes cavovarus at a freestanding children's hospital who underwent surgical correction of the deformity. Patients were excluded for lack of two-stage corrective operation, nonambulatory status, lack of at least six months follow-up, and age > 18 years at the time of surgery. This resulted in a cohort of 19 patients. Radiographic analysis was performed on 11 feet that had a complete series of preoperative and postoperative weightbearing X-rays. Preoperative and postoperative radiographic outcome measurements were compared using a two-sample t-test. Significant changes between the preoperative and postoperative measurements were seen in Meary's angle, the anteroposterior talo-first metatarsal (AP TMT1) angle, and the talonavicular coverage. Mean values of Meary's angle were 17.9 ± 13.1 preoperatively and 4.7 ± 10.3 postoperatively (P = 0.016). Mean AP TMT1 angle was 20.6 ± 15.1 preoperatively and 9.3 ± 5.5 postoperatively (P = 0.011). Mean talonavicular coverage values were -10.3 ± 9.6 preoperatively and -3.8 ± 10.1 postoperatively (P = 0.025). The two-stage corrective procedure demonstrated efficacy in correcting cavovarus deformity in patients with SB. Providers should strongly consider employing the staged surgical algorithm presented in this manuscript for management of these patients.

Recurrent tethered cord: outcome and follow-up of 20 de-thetering for symptomatic spina bifida: choort study.

The objective of this study was to evaluate the prevalence of tethered cord among patients in the postoperative period of open and occult spina bifida. To identify warning signs for its early diagnosis, as well as outcomes after the new surgical approach. Retrospective study of patients followed at the Pediatric Neurosurgery Department of the Federal University of São Paulo with spinal dysraphism. Signs and symptoms indicating reoperation were collected, and postoperative results were classified as improved, unchanged, or worsened. 222 medical records of patients diagnosed with spinal dysraphism were evaluated. Symptomatic Tethered Cord Syndrome (STCS) was identified in 30 patients (13.51%), with clinical manifestations related to orthopedic deformities (66.7%), neurological deficits (56.7%), urological dysfunction (50%), and intestinal dysfunction (40%). 20 cases underwent surgery for tethered cord release. The mean age at the time of surgery was 7.7 ± 4.9years, with 13 female patients (65%). In the postoperative evaluation, improvement in low back pain (90.9%), urological pattern, and urinary tract infection episodes (45.4%) were particularly noteworthy. 3 patients (33.3%) with constipation showed improvement, and one worsened (11.1%). Improvement in ambulation was seen in two cases (16.7%). Low back pain was the first symptom to improve after surgery, with an average time of 1.3months, followed by changes in the urological pattern at 15.6months. Improvement in constipation was observed in the first month in 2 cases (66.7%), positive changes in ambulation were observed around 7months after surgery, and only one case showed improvement in clubfoot correction. The prevalence of tethered cord recurrence after primary correction surgery for open or occult neural tube closure defects was similar to that found in the literature. The results were encouraging, with good postoperative evolution of patients, especially in the improvement of low back pain and urological symptoms.

Predictors of medical adherence following a bowel management program for youth and young adults with Spina Bifida.

To evaluate individual and community sociodemographic factors that predict bowel regimen adherence in youth and young adults with Spina Bifida (SB) following participation in a bowel management program (BMP). Participants were drawn from clinical cases seen through an International Center for Colorectal and Urogenital Care. Area deprivation index (ADI) scores were extracted from participant addresses and bowel regimen adherence data were collected from the electronic medical record (EMR). Participants' mean age was 8.06years old, 51.7% were male, 72.4% white, 37.9% Hispanic, 56.9% government insurance, 89.7% myelomeningocele, 15.5% non-adherent. Average neighborhood disadvantage was 5.19 (SD:2.83, range:1-10). After controlling for variables correlated with adherence (p < .20), every one decile higher neighborhood disadvantage score was associated with a 48% decrease in the odds of being adherent (OR = 0.52, p = .005, 95% CI: -101.90, -0.21). Our results suggest that neighborhood disadvantage is a strong predictor of medical adherence following a BMP, more so than other sociodemographic and health-related variables. These results may assist with identifying which individuals may be at higher risk for poor health outcomes due to neighborhood socioeconomic disadvantage and help health care systems intervene proactively.

Novel Predictive Scoring System for Bone Union Rate After Conservative Management of Lumbar Spondylolysis.

A single-center retrospective cohort study. To develop a predictive scoring system for bone union after conservative treatment of lumbar spondylolysis and assess its internal validity. Lumbar spondylolysis, a common stress fracture in young athletes, is typically treated conservatively. Predicting bone union rates remains a challenge. This study included patients aged ≤18 years with lumbar spondylolysis undergoing conservative treatment. A multivariable logistic regression analysis was used to develop a scoring system containing six factors: sex, age, lesion level, main side stage of the lesion, contralateral side stage of the lesion, and spina bifida occulta. The predictive scoring system was internally validated from the receiver operating characteristic (ROC) curve using bootstrap methods. The final analysis included 301 patients with 416 lesions, with an overall bone union rate of 80%. On multivariable analysis, the main and contralateral stages were identified as factors associated with bone union. The predictive scoring system was developed from the main side stage score (prelysis, early=0, progressive stage=1) and the contralateral side stage score (none=0, prelysis, early, progressive stage=1, terminal stage=3). The area under the curve was 0.855 (95% confidence interval: 0.811-0.896) for the ROC curve, showing good internal validity. The predicted bone union rates were generally consistent with the actual rates. A simple predictive scoring system was developed for bone union after conservative treatment of lumbar spondylolysis, based on the stage of the lesion on the main and contralateral sides. The predicted bone union rate was approximately 90% for a total score of 0-1 and ≤30% for a score of 3-4. This system demonstrated good internal validity, suggesting its potential as a useful tool in clinical decision making for the management of spondylolysis.

Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects

Background and AimsNeural tube defects (NTDs) occur when the neural tube fails to close within 28 days of human embryonic development. This results in central nervous system disorders like anencephaly, spina bifida, and encephalocele. Early diagnosis and treatment are crucial to minimize their impact on an individual’s health and well-being. The present study aims to define the association between prenatal exposure to trace elements (Cu and Zn) and the single nucleotide polymorphism (SNP) of the MTHFR gene involved in folate metabolism pathways in neural tube defects in children and their mothers. Material and MethodsA cross-sectional study involving 331 participants (90 NTD cases, 88 healthy mothers, 85 NTD children, and 68 healthy children) from antenatal check-ups in Obstetrics and Gynaecology and Pediatric Surgery for Neural Tube Defects in the Outpatient Department (OPD) and Inpatient Department (IPD). Assessed Cu and Zn concentrations and their associations. Genomic DNA was extracted, and real-time PCR was used to determine genotypes. Atomic absorption spectrophotometry measured trace elements. Statistical analyses included Chi-Square tests, odds ratios, and Mann-Whitney U tests. ResultsSignificant associations were found between MTHFR C677T genotypes and NTD risk in mothers (p = 0.0491) and children (p = 0.0297). Allelic frequency analysis indicated a T allele association with NTD risk in children (p = 0.0107). Recessive models showed significant associations in mothers (p = 0.0169) and children (p = 0.1678). Cu levels differed significantly between NTD cases and controls (p < 0.0001), with MTHFR genotypes influencing Cu levels. Zinc levels also varied significantly (p < 0.0001). ConclusionThis study reveals complex associations between MTHFR C677T genotypes, trace element concentrations, and NTD risk in mothers and children. This targeted approach allows healthcare providers to identify at-risk pregnancies early, enabling personalised interventions like folic acid supplementation and counselling to moderate neural tube defect (NTD) risk in a future pregnancy.

Evaluation of the effectiveness of surgical treatment of tethered spinal cord syndrome of secondary origin in spina bifida: a systematic review

Evaluation of the effectiveness of surgical treatment of tethered spinal cord syndrome of secondary origin in spina bifida: a systematic review

Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes

BackgroundChiari malformation type II (CMII) was originally reported in humans as a rare disorder characterized by the downward herniation of the hindbrain and towering cerebellum. The congenital brain malformation is usually accompanied by spina bifida, a congenital spinal anomaly resulting from incomplete closure of the dorsal aspect of the spinal neural tube, and occasionally by other lesions. A similar disorder has been reported in several animal species, including cattle, particularly as a congenital syndrome. A cause of congenital syndromic Chiari-like malformation (CSCM) in cattle has not been reported to date. We collected a series of 14 CSCM-affected Holstein calves (13 purebred, one Red Danish Dairy F1 cross) and performed whole-genome sequencing (WGS). WGS was performed on 33 cattle, including eight cases with parents (trio-based; group 1), three cases with one parent (group 2), and three single cases (solo-based; group 3).ResultsSequencing-based genome-wide association study of the 13 Holstein calves with CSCM and 166 controls revealed no significantly associated genome region. Assuming a single Holstein breed-specific recessive allele, no region of shared homozygosity was detected suggesting heterogeneity. Subsequent filtering for protein-changing variants that were only homozygous in the genomes of the individual cases allowed the identification of two missense variants affecting different genes, SHC4 in case 4 in group 1 and WDR45B in case 13 in group 3. Furthermore, these two variants were only observed in Holstein cattle when querying WGS data of > 5,100 animals. Alternatively, potential de novo mutational events were assessed in each case. Filtering for heterozygous private protein-changing variants identified one DYNC1H1 frameshift variant as a candidate causal dominant acting allele in case 12 in group 3. Finally, the presence of larger structural DNA variants and chromosomal abnormalities was investigated in all cases. Depth of coverage analysis revealed two different partial monosomies of chromosome 2 segments in cases 1 and 7 in group 1 and a trisomy of chromosome 12 in the WDR45B homozygous case 13 in group 3.ConclusionsThis study presents for the first time a detailed genomic evaluation of CSCM in Holstein cattle and suggests an unexpected genetic and allelic heterogeneity considering the mode of inheritance, as well as the type of variant. For the first time, we propose candidate causal variants that may explain bovine CSCM in a certain proportion of affected calves. We present cattle as a large animal model for human CMII and propose new genes and genomic variants as possible causes for related diseases in both animals and humans.